A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585706



Internal ID599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45469565..45469567hg38UCSC Ensembl
Outerchr18:45466850..45469907hg38UCSC Ensembl
Innerchr18:43049530..43049532hg19UCSC Ensembl
Outerchr18:43046815..43049872hg19UCSC Ensembl
Innerchr18:41303528..41303530hg18UCSC Ensembl
Outerchr18:41300813..41303870hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383058
hg193058
hg183058
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275024
Supporting Variants
Samples
Known GenesSLC14A2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585706
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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